Key result
A pathogenic de novo calmodulin variant can manifest as early-onset cardiac arrest, prolonged QT interval, left ventricular hypertrophy, and neurologic disorders.
Case Report (n=1)
CALM variants should be considered in patients presenting with severe or early-onset long QT syndrome, catecholaminergic ventricular tachycardia, hypertrophic cardiomyopathy, and concurrent neurologic disorders.
May prompt CALM testing in severe early-onset cases with HCM; leaves open neurologic associations pending larger cohorts.
Key Teaching Points•Even though CALM variants are not a common cause of long QT syndrome or catecholaminergic ventricular tachycardia, they should nevertheless be considered in the context of a severe or early-onset disease.•The presence of multiple cardiac phenotypes in combination with hypertrophic cardiomyopathy are a novel finding that should be considered.•This case report highlights that the combination of neurologic disorders like attention deficit hyperactivity disorder and dyslexia could be part of the calmodulin phenotype. •Even though CALM variants are not a common cause of long QT syndrome or catecholaminergic ventricular tachycardia, they should nevertheless be considered in the context of a severe or early-onset disease.•The presence of multiple cardiac phenotypes in combination with hypertrophic cardiomyopathy are a novel finding that should be considered.•This case report highlights that the combination of neurologic disorders like attention deficit hyperactivity disorder and dyslexia could be part of the calmodulin phenotype.
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Wong et al. (2023) conducted a case report in Pathogenic de novo calmodulin variant (n=1). Pathogenic de novo calmodulin (CALM) variant was evaluated. A pathogenic de novo calmodulin variant can manifest as early-onset cardiac arrest, prolonged QT interval, left ventricular hypertrophy, and neurologic disorders.
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